Detalhe da pesquisa
1.
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Am J Med Genet A
; 170(11): 2965-2974, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27481187
2.
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
J Neurodev Disord
; 11(1): 13, 2019 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319798